Paroxysmal Dyskinesia
Gene: PDGFB

PDGFB (platelet derived growth factor subunit B)
EnsemblGeneIds (GRCh38): ENSG00000100311
EnsemblGeneIds (GRCh37): ENSG00000100311
OMIM: 190040, Gene2Phenotype
PDGFB is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal dominant disorder characterised by progressive neurologic symptoms that are associated with brain calcifications mainly affecting the basal ganglia. Calcifications may also occur in the thalamus, cerebellum, or white matter. Affected individuals have motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression. Some individuals are asymptomatic. The age at symptom onset ranges from late childhood to adulthood; the disorder is progressive. Multiple families reported.
Created: 9 Sep 2020, 9:55 a.m. | Last Modified: 9 Sep 2020, 9:55 a.m.

Panel Version: 0.42

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Basal ganglia calcification, idiopathic, 5, MIM# 615483

Publications

23913003

Created: 9 Sep 2020, 9:55 a.m.
Last Modified: 9 Sep 2020, 9:55 a.m.
Panel version: 0.42

Eunice Chan (Royal Children's Hospital)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 9 Sep 2020, 3:15 a.m.
Last Modified: 9 Sep 2020, 3:15 a.m.
Panel version: 0.42

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Basal ganglia calcification, idiopathic, 5, MIM# 615483
Paroxysmal nonkinesigenic dyskinesia
paroxysmal kinesigenic dyskinesia
Brain calcification

OMIM

190040

Clinvar variants

Variants in PDGFB

Penetrance

None

Publications

Panels with this gene